Linked Data
ClinVar Variation Id:
511057
dbSNP Id:
rs781687339
ExAC:
5:125911175 AAAAAAG / A
gnomAD v2:
5-125911175-AAAAAAG-A
gnomAD v3:
5-126575483-AAAAAAG-A
gnomAD v4:
5-126575483-AAAAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126575495_126575500del , CM000667.2:g.126575495_126575500del | GRCh38 |
| NC_000005.9:g.125911187_125911192del , CM000667.1:g.125911187_125911192del | GRCh37 |
| NC_000005.8:g.125939086_125939091del | NCBI36 |
| NG_008600.2:g.24902_24907del | |
| NG_008600.3:g.24902_24907del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.651-25_651-20del MANE Select | ENSP00000387123.3:n.651-25_651-20del | |
| ENST00000412186.2:c.527-25_527-20del | ENSP00000414536.2:n.527-25_527-20del | |
| ENST00000413020.6:c.651-25_651-20del | ENSP00000487936.1:n.651-25_651-20del | |
| ENST00000458249.6:c.*560-25_*560-20del | ENSP00000403929.1:n.*560-25_*560-20del | |
| ENST00000503281.6:c.240-25_240-20del | ||
| ENST00000509459.6:c.199-25_199-20del | ||
| ENST00000511266.6:n.1373-25_1373-20del | ||
| ENST00000635851.1:c.649-25_649-20del | ||
| ENST00000636062.1:n.546-25_546-20del | ||
| ENST00000636225.1:c.*460-25_*460-20del | ENSP00000490797.1:n.*460-25_*460-20del | |
| ENST00000636286.1:n.369-25_369-20del | ||
| ENST00000636743.1:c.531-25_531-20del | ENSP00000489725.1:n.531-25_531-20del | |
| ENST00000636808.1:c.*460-25_*460-20del | ENSP00000490833.1:n.*460-25_*460-20del | |
| ENST00000636872.1:c.811-25_811-20del | ENSP00000490919.1:n.811-25_811-20del | |
| ENST00000636879.1:c.696-25_696-20del | ENSP00000490811.1:n.696-25_696-20del | |
| ENST00000636886.1:c.450-25_450-20del | ENSP00000490371.1:n.450-25_450-20del | |
| ENST00000637206.1:c.651-25_651-20del | ENSP00000489895.1:n.651-25_651-20del | |
| ENST00000637272.1:c.651-25_651-20del | ENSP00000489686.1:n.651-25_651-20del | |
| ENST00000637292.1:c.304-25_304-20del | ||
| ENST00000637782.1:c.651-25_651-20del | ENSP00000490024.1:n.651-25_651-20del | |
| ENST00000637964.1:c.597-25_597-20del | ENSP00000490291.1:n.597-25_597-20del | |
| ENST00000638008.1:c.*593-25_*593-20del | ENSP00000490400.1:n.*593-25_*593-20del | |
| ENST00000409134.7:c.651-25_651-20del | ENSP00000387123.3:n.651-25_651-20del | |
| ENST00000413020.5:c.651-25_651-20del | ENSP00000487936.1:n.651-25_651-20del | |
| ENST00000433026.5:n.178-25_178-20del | ||
| ENST00000447989.6:c.732-25_732-20del | ENSP00000414132.2:n.732-25_732-20del | |
| ENST00000458249.5:c.811-25_811-20del | ENSP00000403929.1:n.811-25_811-20del | |
| ENST00000503281.5:c.240-25_240-20del | ||
| ENST00000509459.5:c.199-25_199-20del | ||
| ENST00000510111.6:c.564-25_564-20del | ENSP00000447388.1:n.564-25_564-20del | |
| ENST00000511266.5:n.482-25_482-20del | ||
| ENST00000553117.5:c.651-25_651-20del | ENSP00000448593.1:n.651-25_651-20del | |
| NM_001182.4:c.651-25_651-20del | NP_001173.2:n.651-25_651-20del | |
| NM_001201377.1:c.567-25_567-20del | NP_001188306.1:n.567-25_567-20del | |
| NM_001202404.1:c.732-25_732-20del | NP_001189333.1:n.732-25_732-20del | |
| XM_011543417.1:c.246-25_246-20del | XP_011541719.1:n.246-25_246-20del | |
| XM_011543417.2:c.246-25_246-20del | XP_011541719.1:n.246-25_246-20del | |
| NM_001182.5:c.651-25_651-20del MANE Select | NP_001173.2:n.651-25_651-20del | |
| NM_001201377.2:c.567-25_567-20del | NP_001188306.1:n.567-25_567-20del | |
| NM_001202404.2:c.651-25_651-20del | NP_001189333.2:n.651-25_651-20del |